Population genetics background determines chemotherapy response

S.A. Limborska

Population genomic studies are very important for the creation of new approaches and technologies in medicine area. First of all, it is due to revealing different types of mutations that may cause the diseases or are associated with predispositions to diseases.

There is another very important medical problem connected with the genome peculiarity – that is, the personal response to different kind of influence. The aim of my presentation is to show the important value of ethnogenomic differences in the response of patients to the influence of chemotherapy. For illustration I take our research of ethnic differences in response to cisplatin-based chemotherapy in patients with ovarian cancer. The clinical studies demonstrate that individuals from Asia (East Asia) are more susceptible to the effects of platinum chemotherapy than their Western counterparts. To determine whether population-related genetic characteristics contribute to differences in patient outcomes, 232 single-nucleotide polymorphisms in genes involved mainly in xenobiotic metabolism, DNA repair, the cell cycle, and apoptosis, were evaluated in groups of Russian and Yakut ovarian cancer patients receiving cisplatin-cyclophosphamide chemotherapy. Comparative analysis of the association spectra did not reveal identical correlations for any of significant SNPs. All associations between SNPs and clinical outcomes were specific for each of ethnic group studied. These findings let us to propose the existence of ethnic related distinctive characteristics in molecular mechanisms which determine the sensitivity of patients to platinum drug effects.

Svetlana Limborska

Prof. Dr. Svetlana A. Limborska now is Department chair of Human Molecular Genetics Dept. at the Institute of Molecular Genetics, Russian Academy of Sciences. She got her M.Sc. in Biochemistry at Moscow State University, her Ph.D. degree in Molecular Biology (Engelgardt Institute of Molecular Biology, Russian Academy of Sciences) and her Doctor of Sciences degree in Genetics (Institute of Medical Genetics, Russian Academy of Medical Sciences). She is a Professor of Genetics at Institute of Molecular Genetics, Russian Academy of Sciences.

The main area of S.A. Limborska research is human molecular genetics, including population studies, pharmacogenomics and hereditary and common diseases. She has more than 300 articles published in well-known scientific journals, including Nature, Science, American Journal of Human Genetics etc. She is a Member of Vavilov Society of Genetists and Breeders, Russian Society of Medical Genetics, American Society of Human Genetics, Human Genome Organization, European Anthropological Association, European Society of Human Genetics. Member of Editorial Board of ‘Russian Journal of Genetics’ (Russia), ‘Molecular Genetics, Microbiology and Virusology’ (Russia), ‘Medical Genetics’, (Russia), ‘Proceedings of Latvian Academy of Sciences’ (Latvia).